Genetic Counseling for Patients Considering Screening and Diagnosis for Chromosomal Abnormalities

Renée L Chard; Mary E Norton

doi:10.1016/j.cll.2016.01.005

Genetic Counseling for Patients Considering Screening and Diagnosis for Chromosomal Abnormalities

Clin Lab Med. 2016 Jun;36(2):227-36. doi: 10.1016/j.cll.2016.01.005. Epub 2016 Mar 9.

Authors

Renée L Chard¹, Mary E Norton²

Affiliations

¹ Division of Maternal-Fetal Medicine, Maine Medical Partners Women's Health, 887 Congress Street, Suite 200, Portland, ME 04102, USA.
² Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, 550 16th Street, 7th Floor, San Francisco, CA 94143, USA. Electronic address: mary.norton@ucsf.edu.

PMID: 27235908
DOI: 10.1016/j.cll.2016.01.005

Abstract

With the introduction of cell-free DNA screening for fetal aneuploidy and chromosomal microarray for prenatal diagnostic testing, options for pregnant women have become increasingly complex. Discussions regarding options for prenatal testing for aneuploidy should occur prior to any testing and should include pertinent risks and benefits of each alternative test. There is no single screening or diagnostic test option that is the right choice for all patients; patient decisions should be based on each individual woman's values and preferences after a discussion of all options.

Keywords: Amniocentesis; Chorionic villi sampling; Chromosome abnormalities; Genetic counseling; Maternal serum multiple marker screening; Noninvasive prenatal screening; Prenatal care.

Publication types

Review

MeSH terms

Decision Making
Female
Genetic Counseling*
Humans
Pregnancy
Prenatal Diagnosis / psychology*
Risk Assessment